Canonical Allele Identifier: CA259596
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136430391C>T
GRCh37 chr9:g.139324843C>T
Revel Score:
ENST00000371712 (MANE Select) 0.814
gnomAD v2:
9:139324843 C / T
gnomAD v3:
9:136430391 C / T
gnomAD v4:
chr9-136430391-C-T
Joint Max Group AF 0.00001606 (SAS)
Exomes Max Group AF 0.0000104 (NFE)
ClinVar RCV:
RCV000022403
ClinVar Variation:
398
dbSNP:
121918128
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136430391C>T , CM000671.2:g.136430391C>T GRCh38
NC_000009.11:g.139324843C>T , CM000671.1:g.139324843C>T GRCh37
NC_000009.10:g.138444664C>T NCBI36
NG_016126.1:g.14414G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1688G>A MANE Select ENSP00000360777.3:p.Arg563His
ENST00000674693.1:n.205G>A
ENST00000676019.1:c.1586G>A ENSP00000501984.1:p.Arg529His
ENST00000371712.3:c.1688G>A ENSP00000360777.3:p.Arg563His
NM_019892.4:c.1688G>A NP_063945.2:p.Arg563His
XM_005266094.2:c.1685G>A XP_005266151.1:p.Arg562His
NM_001318502.1:c.1685G>A NP_001305431.1:p.Arg562His
NM_019892.5:c.1688G>A NP_063945.2:p.Arg563His
XM_017014926.1:c.1688G>A XP_016870415.1:p.Arg563His
XR_929828.2:n.2293G>A
NM_019892.6:c.1688G>A MANE Select NP_063945.2:p.Arg563His
NM_001318502.2:c.1685G>A NP_001305431.1:p.Arg562His
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